Pubblicazioni

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

2020 - HUMAN MUTATION

Piceci-Sparascio, Francesca; Palencia-Campos, Adrian; Soto-Bielicka, Patricia; Danzi, Angela; Guida, Valentina; Rosati, Jessica; Caparros-Martin, Jose Antonio; Torrente, Isabella; Cecilia D'Asdia, Maria; Versacci, Paolo; Briuglia, Silvana; Lapunzina, Pablo; Tartaglia, Marco; Marino, Bruno; Digilio, Maria Cristina; Ruiz-Perez, Victor L; De Luca, Alessandro

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

2020 - HUMAN MUTATION

Piceci-Sparascio, F.; Palencia-Campos, A.; Soto-Bielicka, P.; D'Anzi, A.; Guida, V.; Rosati, J.; Caparros-Martin, J. A.; Torrente, I.; D'Asdia, M. C.; Versacci, P.; Briuglia, S.; Lapunzina, P.; Tartaglia, M.; Marino, B.; Digilio, M. C.; Ruiz-Perez, V. L.; De Luca, A.